complex cortical dysplasia with other brain malformations 1
Findings
No curated finding names complex cortical dysplasia with other brain malformations 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013541), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
86 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 2 of 9 reported patients
- Obligate (100% of cases)
- StrabismusHPOHP:0000486
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- 8 of 9 reported patients
- Frequent (30% to 79% of cases)
- Fusion of the caudate and putamenHPOHP:0034180
- 8 of 9 reported patients
Show the remaining 74
- Bilateral ptosisHPOHP:0001488
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- Delayed ability to sitHPOHP:0025336
- Frequent (30% to 79% of cases)
- Delayed fine motor developmentHPOHP:0010862
- Frequent (30% to 79% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Frequent (30% to 79% of cases)
- EsotropiaHPOHP:0000565
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TUBB3HGNC:20772
- Strong · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: complex cortical dysplasia with other brain malformations 1
- Also called
- CDCBM1complex cortical dysplasia with other brain malformations caused by mutation in TUBB3complex cortical dysplasia with other brain malformations type 1cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationcortical dysplasia, Complex, with Other brain malformations type 1TUBB3 complex cortical dysplasia with other brain malformations